QUINCY, Mass. — The National Organization for Rare Disorders (NORD®), the leading national nonprofit serving the estimated 30 million Americans affected by rare diseases, has announced the recipients of its latest seed grant funding cycle. Totaling $145,000, these newly awarded grants are directed toward highly innovative studies aimed at four critically underserved medical conditions: appendix cancer and pseudomyxoma peritonei (ACPMP), epidermodysplasia verruciformis (EV), Peutz-Jeghers syndrome (PJS), and partial trisomy 6q.
This funding cycle is made possible through the collaborative financial backing of dedicated patient advocacy groups and communities. Contributors include the ACPMP Research Foundation, a NORD member patient advocacy organization; the pseudomyxoma peritonei, Peutz-Jeghers syndrome, and epidermodysplasia verruciformis communities; Dylan’s Rare Chromosome Dream Team; and the partial trisomy 6q community. By bringing together grassroots patient advocacy and targeted scientific inquiry, these grants represent a vital step toward bridging the gap in research funding for conditions that historically receive limited attention from traditional pharmaceutical and large-scale institutional sponsors.
Tracey Sikora, NORD Vice President of Research and Clinical Programs, expressed enthusiasm for the groundbreaking projects selected for this funding cycle and praised the researchers stepping up to tackle these difficult medical challenges.
"Huge congratulations to our seed grant recipients — Drs. Sommariva, Ahuja, and Piovani," said Sikora. "Their groundbreaking work represents a major leap forward for everyone affected by ACPMP, EV, PJS, and Partial Trisomy 6q. We’re thrilled to champion innovative research that directly tackles the urgent, unmet needs of rare disease communities. We can’t wait to see how their insights will transform patient care and drive the future of rare disease research."
The awarded researchers will focus their efforts on distinct projects designed to uncover underlying disease mechanisms, evaluate new therapeutic targets, and leverage cutting-edge artificial intelligence to extract actionable insights from complex clinical data.
Advancing Targeted Therapies for Pseudomyxoma Peritonei
Dr. Sommariva has been awarded funding for a study titled “Analysis of TROP2 expression in Pseudomyxoma Peritonei (PMP).” The research addresses a critical clinical challenge in the management of pseudomyxoma peritonei, a rare type of cancer that usually begins in the appendix and spreads to the abdominal lining.
While cytoreductive surgery associated with hyperthermic intraperitoneal chemotherapy (CRS-HIPEC) can significantly improve survival rates and quality of life for many patients affected by PMP, a substantial portion of individuals are ineligible for this intensive surgical approach. Furthermore, alternative therapeutic options such as systemic chemotherapy remain extremely limited, often serving primarily palliative purposes.
Sommariva’s research focuses on investigating a potential new therapeutic target known as trophoblast cell surface antigen 2 (TROP2). Specific agents targeting TROP2 have already been developed and approved by the U.S. Food and Drug Administration (FDA) for treating various other solid tumors. Preliminary laboratory findings have confirmed the overexpression of TROP2 in PMP tumor cells, establishing a strong scientific rationale for further investigation.
The primary objective of Sommariva’s study is to expand and strengthen this initial evidence. By gaining deeper insights into the specific role that TROP2 plays in the pathogenesis of PMP, the research aims to lay the essential groundwork for identifying a novel target for combinatory and adjuvant therapies, potentially offering new treatment avenues for patients with limited options.
Leveraging Privacy-Preserving AI to Close Surveillance Gaps in Epidermodysplasia Verruciformis
Dr. Ahuja has secured funding for a study titled “Quantifying Malignancy and Treatment Effectiveness in EV: A Real-World Evidence Study of Surveillance Gaps.” This project tackles epidermodysplasia verruciformis (EV), an exceptionally rare and debilitating inherited skin disorder.
Individuals with EV face an extraordinarily high lifetime risk of developing skin cancer due to specific underlying genetic mutations combined with persistent, abnormal infections by specific human papillomavirus (HPV) subtypes. Despite this severe oncological risk, real-world data tracking medical surveillance patterns, treatment courses, and long-term clinical outcomes remains severely lacking.
To overcome this information deficit, Ahuja’s project utilizes advanced, privacy-preserving artificial intelligence tools. These technologies allow researchers to securely extract critical clinical details—including specific HPV subtypes, skin cancer recurrence patterns, and precise lesion locations—directly from unstructured dermatopathology reports found within medical records.
By systematically translating this previously hidden information into robust real-world evidence, the research aims to accurately quantify current surveillance gaps in clinical practice. Ultimately, the insights generated by this study are expected to help establish standardized, evidence-based care guidelines designed to improve malignancy-free survival rates for members of the EV community.
Refining Risk-Stratification and Cancer Prevention in Peutz-Jeghers Syndrome
In addition to the EV project, Dr. Ahuja has received a second seed grant for a study titled “Risk-Stratification of PJS Complications: A RWE Study on STK11 Variant Effects on Emergency Surgery and Cancer Onset.” This research turns its focus to Peutz-Jeghers Syndrome (PJS), a rare hereditary condition characterized by the development of benign polyps in the gastrointestinal tract alongside a markedly elevated lifetime risk of severe gastrointestinal complications and aggressive malignancies.
Current medical screening guidelines for PJS patients do not adequately account for the wide variety of specific genetic mutations that actually drive disease progression and severity. To address this clinical shortcoming, Ahuja’s second project similarly employs advanced, privacy-preserving artificial intelligence.
The AI system is designed to securely extract complex genetic data from medical archives and correlate specific variants of the STK11 gene with clinical milestones, such as the age of onset for emergency surgeries and malignancies. By transforming this real-world clinical data into actionable scientific evidence, the project aims to help establish precision, variant-specific surveillance protocols. These tailored protocols could play a vital role in preventing life-threatening medical emergencies and significantly improving long-term health outcomes for individuals living with PJS.
Investigating the Genomic Foundations of Partial Trisomy 6q
Dr. Piovani received funding for a study titled “Partial Trisomy 6q: Clinical Characterization, Genomic Profiling, and Patient-Specific iPSC Models for Functional Disease Investigation.” This project addresses partial trisomy 6q, a rare chromosomal disorder characterized by the presence of an extra segment on the long arm of chromosome 6.
Very little is currently known about the specific presentation and progression of partial trisomy 6q, which makes clinical diagnosis and accurate genetic counseling exceptionally challenging for affected individuals and their families. Piovani’s research seeks to bridge this knowledge gap by combining comprehensive clinical and genomic information with patient-derived induced pluripotent stem cell (iPSC) models.
By utilizing these cellular models, the research team can investigate directly how partial trisomy 6q disrupts normal human development at a cellular level and uncover the underlying biological mechanisms driving the disorder. The resulting data will provide an invaluable resource for the rare disease community, laying the scientific groundwork for future clinical research aimed at improving patient care and diagnostic accuracy.
The Role of Early-Stage Funding in Rare Disease Research
NORD’s Rare Disease Research Grant Program provides critical financial support to qualified researchers embarking on new or existing scientific studies or clinical trials. A central goal of these seed grants is to generate preliminary data robust enough to attract larger-scale funding from major federal and institutional entities, such as the National Institutes of Health (NIH), the FDA, or corporate sponsors.
Since launching its grant initiative in 1989, NORD has distributed more than $9 million in research funding to advance scientific discovery across a broad spectrum of rare diseases that historically lack commercial treatment options and dedicated research funding.
With fewer than 5% of the approximately 10,000 known rare diseases currently possessing an FDA-approved therapy, and the immense financial investment required to bring a prescription medication through clinical development, early-stage funding plays an indispensable role in unlocking scientific progress. Over the decades, NORD’s grant program has successfully jump-started urgent rare disease studies, supported numerous peer-reviewed scientific publications, and directly contributed to the development of two FDA-approved treatments.
Founded in 1983, the National Organization for Rare Disorders operates as an independent, nonpartisan nonprofit organization dedicated to improving the health and well-being of the more than 30 million Americans living with rare conditions. Working in close partnership with over 350 disease-specific member patient organizations and a comprehensive Rare Disease Centers of Excellence network spanning more than 170 medical institutions and children’s hospitals, NORD continues to advance specialized care, cutting-edge research, public education, and legislative advocacy on behalf of the entire rare disease community.
